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KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB. Park J, et al. Among authors: hermann a. Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7. Ann Clin Transl Neurol. 2019. PMID: 31353862 Free PMC article.
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Naumann M, Peikert K, Günther R, van der Kooi AJ, Aronica E, Hübers A, Danel V, Corcia P, Pan-Montojo F, Cirak S, Haliloglu G, Ludolph AC, Goswami A, Andersen PM, Prudlo J, Wegner F, Van Damme P, Weishaupt JH, Hermann A. Naumann M, et al. Among authors: hermann a. Ann Clin Transl Neurol. 2019 Dec;6(12):2384-2394. doi: 10.1002/acn3.50930. Epub 2019 Nov 4. Ann Clin Transl Neurol. 2019. PMID: 31682085 Free PMC article.
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden.
Yilmaz R, Müller K, Brenner D, Volk AE, Borck G, Hermann A, Meitinger T, Strom TM, Danzer KM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS Network MND-NET. Yilmaz R, et al. Among authors: hermann a. Neurobiol Aging. 2020 Mar;87:139.e9-139.e15. doi: 10.1016/j.neurobiolaging.2019.10.018. Epub 2019 Nov 2. Neurobiol Aging. 2020. PMID: 31859009
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment.
Freigang M, Wurster CD, Hagenacker T, Stolte B, Weiler M, Kamm C, Schreiber-Katz O, Osmanovic A, Petri S, Kowski A, Meyer T, Koch JC, Cordts I, Deschauer M, Lingor P, Aust E, Petzold D, Ludolph AC, Falkenburger B, Hermann A, Günther R. Freigang M, et al. Among authors: hermann a. Ann Clin Transl Neurol. 2021 May;8(5):1049-1063. doi: 10.1002/acn3.51340. Epub 2021 Mar 31. Ann Clin Transl Neurol. 2021. PMID: 33792208 Free PMC article.
932 results